| 1 | AVPR2, DIR1
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| Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
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| Li Q, Tian D, Cen J, Duan L, Xia W.
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| J Endocrinol Invest. Dec;44(12):2777-2783. doi: 10.1007/s40618-021-01607-3. Epub 2021 Jun 8. 2021
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| 2 | AVPR2, SIADH
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| Nephrogenic Syndrome of Inappropriate Antidiuresis Mimicking Hyporeninemic Hypoaldosteronism: Case Report of Two Infants
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| Mammadova J, Kara C, Çelebi Bitkin E, İzci Güllü E, Aydın M.
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| J Clin Res Pediatr Endocrinol. Oct 14. doi: 10.4274/jcrpe.galenos.2021.2021.0191. Epub ahead of print. 2021
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| 3 | AVPR2
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| Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis
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| Lopez E, Fukuda S, Modis K, Fujiwara O, Enkhtaivan B, Trujillo-Abarca R, Ihara K, Lima-Lopez F, Perez-Bello D, Szabo C, Prough DS, Enkhbaatar P.
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| Pharmacol Res. Jan;163:105272. doi: 10.1016/j.phrs.2020.105272. Epub 2020 Nov 4. 2020
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| 4 | AVPR2
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| Hypoxia in utero increases the risk of pulmonary hypertension in rat offspring and is associated with vasopressin type‑2 receptor upregulation
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| Ding H, Luo Y, Hu K, Huang H, Liu P, Xiong M, Zhu L, Yi J, Xu Y.
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| Mol Med Rep. Nov;22(5):4173-4182. doi: 10.3892/mmr.2020.11533. Epub 2020 Sep 23. 2020
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| 5 | AQP2, AVPR2, ELF5
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| Elf5 is a principal cell lineage specific transcription factor in the kidney that contributes to Aqp2 and Avpr2 gene expression
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| Grassmeyer J, Mukherjee M, deRiso J, Hettinger C, Bailey M, Sinha S, Visvader JE, Zhao H, Fogarty E, Surendran K.
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| Dev Biol. Apr 1;424(1):77-89. doi: 10.1016/j.ydbio.2017.02.007. Epub 2017 Feb 17. 2017
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| 6 | AVPR2, DIR1
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| Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update. 2017 PMID:
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| Milano S, Carmosino M, Gerbino A, Svelto M, Procino G.
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| Int J Mol Sci. Nov 10;18(11):2385. doi: 10.3390/ijms18112385. 2017
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| 7 | AVPR2, EGFR, ERBB2
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| Therapeutic targets for polycystic kidney disease
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| Wilson PD.
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| Expert Opin Ther Targets. 2016;20(1):35-45. doi: 10.1517/14728222.2015.1083979. Epub 2015 Aug 31. 2016
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| 8 | AVPR2
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| Vasopressin-2 receptor signaling and autosomal dominant polycystic kidney disease: from bench to bedside and back again
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| Rinschen MM, Schermer B, Benzing T.
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| J Am Soc Nephrol. Jun;25(6):1140-7. doi: 10.1681/ASN.2013101037. Epub 2014 Feb 20 2014
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| 9 | AVPR2
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| The physiological and pathophysiological functions of renal and extrarenal vasopressin V2 receptors
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| Juul KV, Bichet DG, Nielsen S, Nørgaard JP.
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| Am J Physiol Renal Physiol. May 1;306(9):F931-40. doi: 10.1152/ajprenal.00604.2013. Epub 2014 Mar 5. 2014
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| 10 | ARRB1, AVPR2
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| β-arrestin-dependent activation of the cofilin pathway is required for the scavenging activity of the atypical chemokine receptor D6.
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| Borroni EM, Cancellieri C, Vacchini A, Benureau Y, Lagane B, Bachelerie F, Arenzana-Seisdedos F, Mizuno K, Mantovani A, Bonecchi R, Locati M.
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| Sci Signal 6(273):ra30.1-11, S1-3. doi: 10.1126/scisignal.2003627.
2013
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| 11 | ACKR2, ARRB1, AVPR2
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| Structure of active β-arrestin-1 bound to a G-protein-coupled receptor phosphopeptide.
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| Shukla AK, Manglik A, Kruse AC, Xiao K, Reis RI, Tseng WC, Staus DP, Hilger D, Uysal S, Huang LY, Paduch M, Tripathi-Shukla P, Koide A, Koide S, Weis WI, Kossiakoff AA, Kobilka BK, Lefkowitz RJ.
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| Nature 497(7447):137-41. doi: 10.1038/nature12120. Epub 2013 Apr 21. 2013
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| 12 | AVPR2, DIR1
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| V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.
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| Takahashi K, Makita N, Manaka K, Hisano M, Akioka Y, Miura K, Takubo N, Iida A, Ueda N, Hashimoto M, Fujita T, Igarashi T, Sekine T, Iiri T.
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| J Biol Chem 287(3):2099-106. Epub 2011 Dec 5.
2012
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| 13 | ARHGAP4, AVPR2, DIR1
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| A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
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| Huang L, Poke G, Gecz J, Gibson K.
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| Am J Med Genet A 158A(10):2511-8. doi: 10.1002/ajmg.a.35591. Epub 2012 Sep 10.
2012
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| 14 | AVPR2, DIR1
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| A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
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| Huang L, Li W, Tang W, Lu G.
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| J Pediatr Endocrinol Metab 24(9-10):807-9.
2011
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| 15 | AVPR2
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| Expression, purification and NMR characterization of the cyclic recombinant form of the third intracellular loop of the vasopressin type 2 receptor.
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| Bellot G, Pascal R, Mendre C, Urbach S, Mouillac B, Déméné H.
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| Protein Expr Purif 78(2):131-8. Epub 2011 May 14.
2011
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| 16 | AVPR1A, AVPR2
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| The splice variant of the V2 vasopressin receptor adopts alternative topologies.
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| Gonzalez A, Borquez M, Trigo CA, Brenet M, Sarmiento JM, Figueroa CD, Navarro J, Gonzalez CB.
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| Biochemistry 50(22):4981-6. Epub 2011 May 11. 2011
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| 17 | AVPR2, DIR2
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| Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.
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| Sahakitrungruang T, Tee MK, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, Miller WL.
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| Horm Res Paediatr 73(5):349-54. Epub 2010 Apr 14.
2010
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| 18 | AVPR2
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| Inhibition of NF-kappaB ameliorates sepsis-induced downregulation of aquaporin-2/V2 receptor expression and acute renal failure in vivo.
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| Höcherl K, Schmidt C, Kurt B, Bucher M.
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| Am J Physiol Renal Physiol 298(1):F196-204. Epub 2009 Oct 14.
2010
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| 19 | AQP2, AVPR2
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| Expression of aquaporins and vasopressin type 2 receptor in the stria vascularis of the cochlea.
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| Nishioka R, Takeda T, Kakigi A, Okada T, Takebayashi S, Taguchi D, Nishimura M, Hyodo M.
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| Hear Res 260(1-2):11-9. Epub 2009 Sep 29.
2010
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| 20 | AQP2, AVP, AVPR2
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| Reciprocal regulation of aquaporin-2 abundance and degradation by protein kinase A and p38-MAP kinase.
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| Nedvetsky PI, Tabor V, Tamma G, Beulshausen S, Skroblin P, Kirschner A, Mutig K, Boltzen M, Petrucci O, Vossenkämper A, Wiesner B, Bachmann S, Rosenthal W, Klussmann E.
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| J Am Soc Nephrol 21(10):1645-56. Epub 2010 Aug 19.
2010
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| 21 | AVPR2
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| Involvement of the V2 vasopressin receptor in adaptation to limited water supply.
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| Böselt I, Römpler H, Hermsdorf T, Thor D, Busch W, Schulz A, Schöneberg T.
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| PLoS One 4(5):e5573. Epub 2009 May 18.
2009
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| 22 | AVPR2
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| VRQ397 (CRAVKY): a novel noncompetitive V2 receptor antagonist.
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| Rihakova L, Quiniou C, Hamdan FF, Kaul R, Brault S, Hou X, Lahaie I, Sapieha P, Hamel D, Shao Z, Gobeil F Jr, Hardy P, Joyal JS, Nedev H, Duhamel F, Beauregard K, Heveker N, Saragovi HU, Guillon G, Bouvier M, Lubell WD, Chemtob S.
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| Am J Physiol Regul Integr Comp Physiol 297(4):R1009-18. Epub 2009 Jul 29.
2009
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| 23 | AVPR2
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| Vasopressin receptor-mediated functional signaling pathway in primary cilia of renal epithelial cells.
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| Raychowdhury MK, Ramos AJ, Zhang P, McLaughin M, Dai XQ, Chen XZ, Montalbetti N, Del Rocío Cantero M, Ausiello DA, Cantiello HF.
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| Am J Physiol Renal Physiol 296(1):F87-97. Epub 2008 Oct 22.
2009
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| 24 | ARHGAP4, AVPR2, DIR1, HSAS, L1CAM
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| Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.
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| Knops NB, Bos KK, Kerstjens M, van Dael K, Vos YJ.
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| Am J Med Genet A 146A(14):1853-8. 2008
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| 25 | AVPR2
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| Meniere's attacks occur in the inner ear with excessive vasopressin type-2 receptors.
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| Kitahara T, Doi K, Maekawa C, Kizawa K, Horii A, Kubo T, Kiyama H.
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| J Neuroendocrinol 20(12):1295-300.
2008
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| 26 | AVPR2, SIADH
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| AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
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| Spanakis E, Milord E, Gragnoli C.
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| J Cell Physiol 217(3):605-17. Review.
2008
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| 27 | AVPR1A, AVPR2
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| Regulation of V2R transcription by hypertonicity and V1aR-V2R signal interaction.
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| Izumi Y, Nakayama Y, Memetimin H, Inoue T, Kohda Y, Nonoguchi H, Tomita K.
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| Am J Physiol Renal Physiol 295(4):F1170-6. Epub 2008 Aug 13.
2008
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| 28 | DIR1, L1CAM, AVPR2, HSAS
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| Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
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| Tegay DH, Lane AH, Roohi J, Hatchwell E.
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| Am J Med Genet A 143(6):594-8. 2007
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| 29 | AVPR2, DIR1
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| Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.
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| Kotnik P, Battelino T, Debeljak M, Podkrajsek KT, Waldhauser F, Frøkiaer J, Nielsen S, Krzisnik C.
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| J Pediatr Endocrinol Metab 20(4):483-9.
2007
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| 30 | AVPR2, SIADH
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| Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree.
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| Decaux G, Vandergheynst F, Bouko Y, Parma J, Vassart G, Vilain C.
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| J Am Soc Nephrol 18(2):606-12. Epub 2007 Jan 17.
2007
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| 31 | AQP2, AVPR2, DIR1
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| Nephrogenic diabetes insipidus.
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| Bichet DG.
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| Adv Chronic Kidney Dis 13(2):96-104. Review.
2006
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| 32 | ARHGAP4, AVPR2, DIR1, NAA10
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| Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region.
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| Broides A, Ault BH, Arthus MF, Bichet DG, Conley ME.
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| Clin Immunol 120(2):147-55. Epub 2006 Jun 15. 2006
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| 33 | ARHGAP4, AVPR2, DIR1
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| Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
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| Demura M, Takeda Y, Yoneda T, Furukawa K, Usukura M, Itoh Y, Mabuchi H.
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| Hum Mutat 19(1):23-9. 2002
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| 34 | AVPR2, DIR1
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| Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
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| Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi Y, Hsiao KJ.
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| J Hum Genet 47(2):66-73.
2002
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| 35 | AVPR2
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| Identification of a short cis-acting element in the human vasopressin type 2 receptor gene which confers high-level expression of a reporter gene specifically in collecting duct cells.
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| Calmont A, Reichwald K, Ronco P, Rossert J.
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| Mol Endocrinol 14(10):1682-95. 2000
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| 36 | AQP2, AVPR2, DIR1, DIR2
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| Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
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| Rocha JL, et al.
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| Hum Mutat 14(3):233-239 1999
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| 37 | AVPR2, DIR1
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| V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
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| Schšneberg T, et al.
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| Hum Mutat 12 : 196-205. 1998
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| 38 | AVPR2, DIR1
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| Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.
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| Cheong HI, et al.
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| Nephron 75 : 431-437. 1997
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| 39 | AVPR2, DIR1
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| An X-linked NDI mutation reveals a requirement for cell surface V2R expression.
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| Sadeghi HM, Innamorati G, Birnbaumer M.
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| Mol Endocrinol 11(6):706-13. 1997
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| 40 | AQP2, AVPR2
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| Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
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| Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Dechaux M, Antignac C.
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| J Am Soc Nephrol 8(12):1855-62. 1997
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| 41 | AVPR2, DIR1
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| Functional characterization of five V2 vasopressin receptor gene mutations.
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| Wenkert D, et al.
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| Mol Cell Endocrinol 124 : 43-50. 1996
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| 42 | DIR1, AVPR2
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| Binding-, intracellular transport-, and bioosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
|
| Tsukaguchi H, et al.
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| J Clin Invest 96 : 2043-2050. 1995
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| 43 | DIR1, AVPR2
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| Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.
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| van Lieburg AF, et al.
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| Hum Genet 96 : 70-78. 1995
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| 44 | AVPR2
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| Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
|
| Wildin RS, et al.
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| Am J Hum Genet 55 : 266-277. 1994
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| 45 | AVPR2
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| Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
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| Bichet DG, et al.
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| Am J Hum Genet 55 : 278-286. 1994
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| 46 | AVPR2, DIR1
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| Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.
|
| Wenkert D, et al.
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| Hum Mol Genet 3 : 1429-1430. 1994
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| 47 | DIR1, AVPR2
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| Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
|
| Faa V, et al.
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| Hum Mol Genet 3 : 1685-1886. 1994
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| 48 | AVPR2, DIR1
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| Nephrogenic diabetes insipidus : an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
|
| Friedman E, et al.
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| Proc Natl Acad Sci U S A 91 : 8457-8461. 1994
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| 49 | DIR1, AVPR2
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| Identification of eight new mutations in familial neurogenic diabetes insipidus supports the concept that defective folding of the mutant provasopressin-neurophysin causes the disease. (abstr)
|
| Rittig S, et al.
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| Am J Hum Genet 55 : A239. 1994
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| 50 | AVPR2
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| Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus.
|
| Oksche A, et al.
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| Biochem Biophys Res Commun 205 : 552-557. 1994
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| 51 | AVPR2,DIR1
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| Two novel mutations in the vasopressin V2 receptor gene in unrelated japanese kindreds with nephrogenic diabetes insipidus.
|
| Tsukaguchi H, et al.
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| Biochem Biophys Res Commun 197 : 1000-1010. 1993
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| 52 | AVPR2, DIR1
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| A molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.
|
| Holtzman EJ, et al.
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| N Engl J Med 328 : 1534-1537. 1993
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| 53 | AVPR2, DIR1
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| A mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus.
|
| Merendino JJ, et al.
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| N Engl J Med 328 : 1538-1541. 1993
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| 54 | AVPR2
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| Comparative mapping on the mouse and human X chromosomes of a human cDNA clone encoding the vasopressin renal-type receptor (AVP2R).
|
| Faust CJ, et al.
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| Genomics 15 : 439-441. 1993
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| 55 | AVPR2, DIR1
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| A null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the hopewell kindred.
|
| Holtzman EJ, et al.
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| Hum Mol Genet 2 : 1201-1204. 1993
|
| 56 | AVPR2
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| Type 2 vasopressin receptor gene, the gene responsible for nephrogenic diabetes insipidus, maps to Xq28 close to the licam gene.
|
| Frattini A, et al.
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| Biochem Biophys Res Commun 193 : 864-871. 1993
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| 57 | AVPR2, DIR1
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| Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.
|
| Rosenthal W, et al.
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| J Biol Chem 268 : 13030-13033. 1993
|
| 58 | AVPR2
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| A polymorphism in the coding region of the vasopressin type 2 receptor (AVPR2) gene.
|
| Friedman E, et al.
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| Hum Mol Genet 2 : 1746. 1993
|
| 59 | DIR1, AVPR2
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| Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.
|
| van den Ouweland AMW, et al.
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| Genomics 13 : 1350-1352. 1992
|
| 60 | DIR1, AVPR2
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| Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus.
|
| Rosenthal W, et al.
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| Nature 359 : 233-235. 1992
|
| 61 | DIR1, AVPR2
|
| A single base substitution in exon 1 of the vasopressin-neurophysin II gene is linked to familial neurogenic diabetes insipidus in a Caucasian kindred.
|
| Kovacs L, et al.
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| Am J Hum Genet 51 : A30. 1992
|
| 62 | DIR1, AVPR2
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| Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
|
| Pan Y, et al.
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| Nat Genet 2 : 103-106. 1992
|
| 63 | DIR1, AVPR2
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| Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
|
| Van den Ouweland AMW, et al.
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| Nat Genet 2 : 99-102. 1992
|
| 64 | AVPR2
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| Structure and chromosomal localization of the human antidiuretic hormone receptor gene.
|
| Seibold A, et al.
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| Am J Hum Genet 51 : 1078-1083. 1992
|
| 65 | AVPR2
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| Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus.
|
| Lolait SJ, O'Carroll AM, McBride OW, Konig M, Morel A, Brownstein MJ.
|
| Nature 357(6376):336-9. 1992
|